Test Code: 9598

ELN-related Disorders: ELN Gene Sequencing
Test Code: 9598
Turnaround time: 6 weeks

CONDITION DESCRIPTION

Numerous genetic disorders, including connective tissue, cardiac, pulmonary, and seizure, are associated with pathogenic variants found in the ELN gene. This gene provides instructions for making proteins called tropoelastin. These proteins attach to one another and are processed to form a mature protein called elastin. Elastin is the major component of elastic fibers; slender bundles of proteins that provide strength and flexibility to connective tissue. Elastic fibers are found in the intricate lattice that forms in the spaces between cells, where they give structural support to organs and tissues such as the heart, skin, lungs, ligaments, and blood vessels.

Reference:
GeneReviews.

GENES
ELN

INDICATIONS
This test is indicated for:

  • Confirmation of a clinical diagnosis of an ELN-related disorder.

METHODOLOGY

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient’s genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not mean to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient’s gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants of unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.

DETECTION

Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.

Analytical Sensitivity: ~99%.

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types
Type: Whole Blood

Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml.

Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Isolated DNA
Specimen Requirements: In microtainer: 60 μg
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.